Mutagenetix > Incidental Mutations

Incidental Mutation 'R4464:Abcc3'

330278

Institutional Source

Beutler Lab

Gene Symbol

Abcc3

Ensembl Gene

ENSMUSG00000020865

Gene Name

ATP-binding cassette, sub-family C (CFTR/MRP), member 3

Synonyms

MRP3, 1700019L09Rik

MMRRC Submission

041722-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4464 (G1)

Quality Score

199

Status

Validated

Chromosome

Chromosomal Location

94343295-94392997 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94358786 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1111 (V1111A)

Ref Sequence

ENSEMBL: ENSMUSP00000136343 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021231] [ENSMUST00000178136]

Predicted Effect

probably benign
Transcript: ENSMUST00000021231
AA Change: V1110A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000021231
Gene: ENSMUSG00000020865
AA Change: V1110A

Domain	Start	End	E-Value	Type
transmembrane domain	35	57	N/A	INTRINSIC
transmembrane domain	64	86	N/A	INTRINSIC
transmembrane domain	101	123	N/A	INTRINSIC
transmembrane domain	130	152	N/A	INTRINSIC
transmembrane domain	172	190	N/A	INTRINSIC
Pfam:ABC_membrane	310	581	4.4e-43	PFAM
AAA	652	827	2.77e-10	SMART
Pfam:ABC_membrane	963	1235	3.2e-46	PFAM
AAA	1310	1495	2.66e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000178136
AA Change: V1111A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000136343
Gene: ENSMUSG00000020865
AA Change: V1111A

Domain	Start	End	E-Value	Type
transmembrane domain	35	57	N/A	INTRINSIC
transmembrane domain	64	86	N/A	INTRINSIC
transmembrane domain	101	123	N/A	INTRINSIC
transmembrane domain	130	152	N/A	INTRINSIC
transmembrane domain	172	190	N/A	INTRINSIC
Pfam:ABC_membrane	310	581	4.8e-34	PFAM
AAA	652	827	2.77e-10	SMART
coiled coil region	854	883	N/A	INTRINSIC
Pfam:ABC_membrane	967	1236	8.6e-48	PFAM
AAA	1311	1496	2.66e-12	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

97% (35/36)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. The specific function of this protein has not yet been determined; however, this protein may play a role in the transport of biliary and intestinal excretion of organic anions. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene exhibit increased liver bile acid levels after bile duct ligation [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	T	5: 63,898,839		probably benign	Het
Acot10	G	A	15: 20,665,744	R304*	probably null	Het
Aldh8a1	C	A	10: 21,388,941		probably benign	Het
Alms1	A	G	6: 85,620,021	T1079A	possibly damaging	Het
Armc3	T	C	2: 19,248,659	Y204H	probably damaging	Het
Asnsd1	C	A	1: 53,352,527		probably null	Het
Atad5	T	A	11: 80,100,311		probably null	Het
Cst12	G	A	2: 148,789,517	V53I	possibly damaging	Het
Cylc2	C	G	4: 51,229,651	T331R	unknown	Het
Dennd1a	A	T	2: 38,243,390		probably benign	Het
Fam213a	T	A	14: 40,997,875	K127N	probably damaging	Het
Gm7535	C	A	17: 17,911,662		probably benign	Het
Gpr158	T	A	2: 21,826,999	M970K	probably damaging	Het
Ifngr1	G	A	10: 19,597,517	V72I	possibly damaging	Het
Kifap3	C	A	1: 163,817,895	Q269K	probably benign	Het
Krt86	G	A	15: 101,473,914	D122N	probably damaging	Het
Lrrcc1	A	G	3: 14,557,318	K694E	probably damaging	Het
Mbd4	A	G	6: 115,849,502	L155S	probably damaging	Het
Nalcn	T	C	14: 123,323,350	N772D	probably benign	Het
Olfr109	C	T	17: 37,466,851	S215F	probably damaging	Het
Psg29	A	T	7: 17,210,650	N362Y	possibly damaging	Het
Ptpn23	G	A	9: 110,386,813	T1325I	probably damaging	Het
Rad51ap1	T	C	6: 126,934,768	N52S	possibly damaging	Het
Rb1	C	A	14: 73,199,198		probably null	Het
Slc34a2	T	C	5: 53,069,182	L490P	probably damaging	Het
Sost	G	A	11: 101,966,844	P44S	probably damaging	Het
St3gal2	A	G	8: 110,967,502	N207D	probably benign	Het
Stat1	T	G	1: 52,137,416	D257E	possibly damaging	Het
Tkt	A	G	14: 30,568,274	T165A	possibly damaging	Het
Trim66	A	T	7: 109,477,690	S347R	possibly damaging	Het
Zfp429	T	C	13: 67,390,498	I276V	probably benign	Het

Other mutations in Abcc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01147:Abcc3	APN	11	94343785	splice site	probably benign
IGL01154:Abcc3	APN	11	94359232	splice site	probably benign
IGL01353:Abcc3	APN	11	94352108	missense	possibly damaging	0.88
IGL02553:Abcc3	APN	11	94351924	missense	probably damaging	1.00
IGL02795:Abcc3	APN	11	94361642	splice site	probably benign
IGL02928:Abcc3	APN	11	94361306	missense	possibly damaging	0.49
IGL02964:Abcc3	APN	11	94351810	missense	possibly damaging	0.93
IGL03006:Abcc3	APN	11	94368595	missense	probably benign	0.18
IGL03345:Abcc3	APN	11	94359337	missense	probably damaging	1.00
R0200:Abcc3	UTSW	11	94355074	missense	probably damaging	0.96
R0377:Abcc3	UTSW	11	94375096	missense	possibly damaging	0.90
R0812:Abcc3	UTSW	11	94375202	splice site	probably benign
R1269:Abcc3	UTSW	11	94357384	missense	probably damaging	1.00
R1270:Abcc3	UTSW	11	94357384	missense	probably damaging	1.00
R1375:Abcc3	UTSW	11	94352216	missense	possibly damaging	0.46
R1506:Abcc3	UTSW	11	94357318	missense	possibly damaging	0.89
R1525:Abcc3	UTSW	11	94361236	missense	probably benign	0.00
R1842:Abcc3	UTSW	11	94359612	missense	probably benign	0.00
R1868:Abcc3	UTSW	11	94364063	missense	probably benign	0.06
R2069:Abcc3	UTSW	11	94364417	missense	probably damaging	1.00
R2132:Abcc3	UTSW	11	94367600	missense	probably benign	0.18
R2257:Abcc3	UTSW	11	94363594	missense	probably damaging	1.00
R2395:Abcc3	UTSW	11	94357306	missense	possibly damaging	0.90
R2930:Abcc3	UTSW	11	94361810	missense	probably damaging	0.99
R3081:Abcc3	UTSW	11	94356976	missense	probably damaging	1.00
R3824:Abcc3	UTSW	11	94368620	critical splice acceptor site	probably null
R4385:Abcc3	UTSW	11	94368239	missense	probably damaging	0.99
R4425:Abcc3	UTSW	11	94346044	missense	probably damaging	0.98
R4696:Abcc3	UTSW	11	94350991	missense	probably benign	0.01
R4877:Abcc3	UTSW	11	94367595	missense	probably damaging	0.98
R5172:Abcc3	UTSW	11	94375608	missense	probably damaging	1.00
R5586:Abcc3	UTSW	11	94364421	missense	probably damaging	1.00
R5682:Abcc3	UTSW	11	94392897	missense	probably benign	0.31
R5719:Abcc3	UTSW	11	94351068	missense	probably damaging	1.00
R5816:Abcc3	UTSW	11	94343737	missense	probably damaging	0.99
R5919:Abcc3	UTSW	11	94357306	missense	possibly damaging	0.90
R6222:Abcc3	UTSW	11	94368605	missense	probably benign	0.21
R6264:Abcc3	UTSW	11	94373998	missense	probably damaging	0.99
R6526:Abcc3	UTSW	11	94359372	missense	probably benign	0.21
R6782:Abcc3	UTSW	11	94358950	missense	probably damaging	1.00
R6889:Abcc3	UTSW	11	94375555	missense	possibly damaging	0.49
R6953:Abcc3	UTSW	11	94374835	missense	probably benign	0.03
R7054:Abcc3	UTSW	11	94365225	missense	probably benign	0.01
R7131:Abcc3	UTSW	11	94365031	missense	probably damaging	1.00
R7210:Abcc3	UTSW	11	94373941	missense	probably benign	0.03
R7283:Abcc3	UTSW	11	94357047	missense	probably benign	0.44
R7284:Abcc3	UTSW	11	94357047	missense	probably benign	0.44
R7285:Abcc3	UTSW	11	94357047	missense	probably benign	0.44
R7287:Abcc3	UTSW	11	94357047	missense	probably benign	0.44
R7320:Abcc3	UTSW	11	94367645	missense	probably benign	0.33
R7450:Abcc3	UTSW	11	94361695	missense	probably damaging	1.00
R7469:Abcc3	UTSW	11	94368188	missense	probably damaging	1.00
R7794:Abcc3	UTSW	11	94358871	missense	probably benign	0.12
R7851:Abcc3	UTSW	11	94359660	nonsense	probably null
R7861:Abcc3	UTSW	11	94357249	missense	probably null	1.00
R8036:Abcc3	UTSW	11	94345992	missense	possibly damaging	0.47
R8214:Abcc3	UTSW	11	94363518	missense	probably damaging	0.96
R8447:Abcc3	UTSW	11	94364060	missense	possibly damaging	0.49
X0064:Abcc3	UTSW	11	94363498	missense	probably benign	0.00
Z1176:Abcc3	UTSW	11	94361275	missense	probably benign	0.01
Z1177:Abcc3	UTSW	11	94357008	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACTACAGTCCCTGATCCAATC -3'
(R):5'- GCTCTGCTGCACAACAAGATTC -3'

Sequencing Primer
(F):5'- AGTCCCTGATCCAATCCAGGG -3'
(R):5'- TGCTGCACAACAAGATTCGTTCC -3'

Posted On

2015-07-21